Short-chain acyl-coenzyme A dehydrogenase deficiency in mice

Pediatr Res. 1989 Jan;25(1):38-43. doi: 10.1203/00006450-198901000-00010.

Abstract

A murine model for short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency has been identified and characterized in BALB/cByJ mice. These mice have undetectable SCAD activity, severe organic aciduria; excreting ethylmalonic and methylsuccinic acids and N-butyrylglycine, and develop a fatty liver upon fasting or dietary fat challenge. The mutant mice develop hypoglycemia after an 18-h fast, and have elevated urinary and muscle butyrylcarnitine concentrations. Most of these findings parallel those of human disorders associated with SCAD deficiency and other beta-oxidation defects. This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Animals
  • Carnitine / blood
  • Carnitine / urine
  • Disease Models, Animal
  • Fatty Acid Desaturases / deficiency*
  • Fatty Acids / metabolism
  • Fatty Acids / urine*
  • Fatty Acids, Volatile / metabolism
  • Gas Chromatography-Mass Spectrometry
  • Glycine / analogs & derivatives
  • Glycine / urine
  • Malonates / urine
  • Mice
  • Mice, Inbred BALB C
  • Oxidation-Reduction
  • Succinates / urine

Substances

  • Fatty Acids
  • Fatty Acids, Volatile
  • Malonates
  • Succinates
  • N-butyrylglycine
  • ethylmalonic acid
  • Fatty Acid Desaturases
  • Acyl-CoA Dehydrogenase
  • Carnitine
  • Glycine
  • monomethyl succinate